Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of brain morphology (HP:0012443)

Parent Node:
Abnormal brainstem morphology (HP:0002363)

..Starting node
..Enlarged brainstem (HP:0012755)

Term ID:

12755

Name:

Enlarged brainstem

Synonym:

Definition:

Abnormal increase in size of the brainstem.

Comments:

Reference:

HP:0012755

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal brainstem MRI signal intensity (HP:0012747)

Abnormal brainstem white matter morphology (HP:0012501)

Abnormal medulla oblongata morphology (HP:0011441)

Abnormal pons morphology (HP:0007361)

Aplasia/Hypoplasia of the brainstem (HP:0007362)

Atrophy/Degeneration affecting the brainstem (HP:0007366)

Brain stem compression (HP:0002512)

Brainstem dysplasia (HP:0002508)

Kinked brainstem (HP:0012793)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012755	HP:0012755	Enlarged brainstem	0	CL E G H

Genes (0) :

Diseases (0) :

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.